ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278725
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164724
ClinVar RCV Id:
RCV000151522
RCV000591925
RCV001089684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Thr2109Ile
CA278724
NM_000260.4:c.6326C>T